rs121912511

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	5	Romano-Ward Long QT Syndrome

Make rs121912511(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150974825

Gene	KCNH2, LOC107986861

is a	snp
is	mentioned by
dbSNP	rs121912511
dbSNP (classic)	rs121912511
ClinGen	rs121912511
ebi	rs121912511
HLI	rs121912511
Exac	rs121912511
Gnomad	rs121912511
Varsome	rs121912511
LitVar	rs121912511
Map	rs121912511
PheGenI	rs121912511
Biobank	rs121912511
1000 genomes	rs121912511
hgdp	rs121912511
ensembl	rs121912511
geneview	rs121912511
scholar	rs121912511
google	rs121912511
pharmgkb	rs121912511
gwascentral	rs121912511
openSNP	rs121912511
23andMe	rs121912511
SNPshot	rs121912511
SNPdbe	rs121912511
MSV3d	rs121912511
GWAS Ctlg	rs121912511

Merged from

Rs28933095

Max Magnitude

5

OMIM	152427
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121912511(C;C)
Alt	rs121912511(C;C)
Reference	Rs121912511(A;A)
Significance	Pathogenic
Disease	Long QT syndrome 2 Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 2 Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150671913T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015515.27, RCV000058063.3,

[PMID 12354768] A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.

[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

[PMID 21661061] An NMR study of the N-terminal domain of wild-type hERG and a T65P trafficking deficient hERG mutant.